Bartter Syndrome, Type 3
| Disorder | |
|---|---|
| OMIM #: | #607364 (Click to access OMIM database) |
| Disorder: | Bartter Syndrome, Type 3 |
| Also known as: | BARTTER SYNDROME, TYPE 3, WITH HYPOCALCIURIA, INCLUDED |
| Clinical | |
| Phenotype: | short stature, hypotension, hypokalemia, metabolic alkalosis, hypocalcemia, hypercalciuria, dehydration, polydipsia, polyuria, scelochoroidal lesions, muscle weakness, muscle weakness |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | CLCNKB |
| Base Change: | 22,508bp deletion |
| Amino Acid Change: | |
| Last updated: | 2022-11-02 |
| References |
|---|
| Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36. PubMed ID: 19630565 |
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